Mutation in γD-crystallin Linked to Cataract in Chinese Family
Author Information
Author(s): Wang Li, Chen Xueli, Lu Yi, Wu Jihong, Yang Boqi, Sun Xinghuai
Primary Institution: Department of Ophthalmology, Eye and ENT hospital of Fudan University, Shanghai, China
Hypothesis
To identify the pathogenic gene mutation in a Chinese family with autosomal dominant congenital nuclear cataract.
Conclusion
The study identified a novel mutation (c. 110G>C) in CRYGD associated with autosomal dominant congenital cataract in a Chinese family.
Supporting Evidence
- A novel mutation (c.110G>C) was detected in exon 2 of CRYGD.
- The mutation co-segregated with all patients and was absent in 100 normal Chinese controls.
- Bioinformatics analysis showed an increase in local hydrophilicity of the R36P mutant γD-crystallin.
- The structure of the mutant protein was similar to that of native human γD-crystallin.
Takeaway
Scientists found a new change in a gene that causes cataracts in a family from China, which helps us understand more about this eye problem.
Methodology
Genomic DNAs were obtained from eleven family members, and candidate genes were sequenced to identify mutations.
Participant Demographics
Three-generation Chinese family with five affected individuals.
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